Vertebral fractures in Gaucher disease type I: data from the French "Observatoire" on Gaucher disease (FROG).

UNLABELLED: Gaucher disease type 1 (GD1), results in a range of skeletal complications including osteopenia, osteoporosis, and osteonecrosis, but there is little published information regarding vertebral fractures. Findings from this observational study indicated that the prevalence of vertebral fractures in a cohort of adult French GD1 patients is approximately 15%. INTRODUCTION: The aim of the study was to assess the prevalence and characteristics of vertebral fractures in a cohort of adult patients with GD1. METHODS: This study was performed in adult patients with GD1 based on a detailed and complete clinical examination. For all patients for whom vertebral fractures were reported, a specific questionnaire was sent to physicians, and imaging data were collected, when available, for centralized analysis. RESULTS: Data were collected from a total of 105 adult GD1 patients. Bone complications were reported in 85% of patients, among whom vertebral fractures were diagnosed in 16 (15%); seven women and nine men (mean age, 45 years). We observed five patients with multiple vertebral fractures and one patient in whom the T3 vertebra was fractured. Most of these patients did not report fracture-related back pain. CONCLUSIONS: The prevalence of vertebral fractures in this cohort of adult patients with GD1 was 15%. Greater awareness of the natural history of vertebral fractures in GD1, and rigorous monitoring of bone fragility and spine involvement in affected patients, should allow earlier detection and initiation of treatment tailored toward improving bone status.

The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG).

BACKGROUND: Gaucher disease (GD), the most prevalent inherited lysosomal storage disorder, is caused by deficient glucocerebrosidase activity. Type 1 GD (GD1), the most common variant, is classically considered non-neuronopathic. METHODS: We performed a national cross-sectional observational survey-the French Observatoire on Gaucher Disease (FROG)-in patients with GD1 between March 2005 and September 2006. The study included all patients over 18 years of age with confirmed GD1 who attended participating centers for regular follow-up. RESULTS: One hundred and five patients were included, in whom we studied the prevalence and characteristics of relevant neurological symptoms associated with the neuraxis. Of these, 51 (49%) GD1 patients presented at least one neurological symptom. Four patients (4%) had Parkinson disease and 22 (21%) presented with at least one parkinsonian sign or at least one sign frequently associated with Parkinson disease. Five patients (5%) had a previous diagnosis of peripheral neuropathy. Other central nervous system symptoms were recorded in 20 (19%) patients and other peripheral nervous system symptoms in 39 (37%) patients. CONCLUSIONS: These data challenge the current classification of GD, and suggest that the three forms of GD each involve a different profile of neurological manifestations.

A case of polymyositis with anti-histidyl-t-RNA synthetase (Jo-1) antibody syndrome following extensive vinyl chloride exposure.

Occupational exposure to vinyl chloride monomers is known to induce Raynaud's phenomenon, periportal fibrosis, liver angiosarcoma and scleroderma-like syndrome. We report the first case of occupational polymyositis in a 58-year-old man exposed to vinyl chloride. A dysimmune process was strongly suspected as having induced vinyl chloride disease. Our patient had an anti-histidyl-t-RNA-synthetase (Jo1) antibody, which has never to our knowledge been reported in this occupational disease.

[Mitochondrial diseases in adults]. / Cytopathies mitochondriales à l'âge adulte.

PURPOSE: Mitochondrial diseases have numerous phenotypic expression, and form an heterogeneous group of genetic diseases in which the production of energy fails. Well known in childhood, these mitochondrial diseases can onset in adulthood and may remain unrecognized. We propose a recent review (Medline 1981-2001) of the literature on adult forms of mitochondriopathies, illustrated with a typical case report. CURRENT KNOWLEDGE AND KEY POINTS: Mitochondrial diseases have numerous phenotypic expression in adulthood. Principles of diagnosis are i) recognize a phenotype, ii) prove the mitochondrial abnormalities, iii) realize a genetical analysis. Main varieties of adult phenotypes are studied and separated in 1) skeletal muscular involvement, ocular myopathies above all; 2) mitochondrial cardiomyopathies; 3) neurological involvement (MERRF, MELAS, NARP, MNGIE syndromes); 4) endocrinological involvement and diabetes mellitus; 5) multisystemic diseases with a particular focus on Kearns Sayre syndrome. FUTURE PROSPECTS AND PROJECTS: Phenotypic analysis of a patient with mitochondrial disease is not simple. A "multi-tissues" involvement is the main characteristic feature. Faced with such patients, replacement therapy, genomic therapy and genetic advice are evoked.

[A group fever: safari's fever]. / Une fièvre collective: la fièvre des safaris.

INTRODUCTION: Acute schistosomiasis, called safari's fever in Africa and Katayama fever in Japan, is an immunoallergic reaction due to transcutaneous penetration of infective cercaria. We report the collective case of seven young adults spending holidays in Mali. EXEGESIS: An eighteen years-old girl presents fever, headache, diarrhoea and abdominal pains at return from Dogon country (south of Mali). After turned down malaria and with the notion of bathing in fresh water followed by pruritus, we think to safari's fever. So we alarm all other members of the group. All can be treated to avoid chronic schistosomiasis. CONCLUSION: These observations recall that acute schistosomiasis is a real danger for tourists when bathing in fresh water in endemic areas of Africa. Education of travellers is necessary. Occurrence of safari's fever should alert physicians to prevent chronic schistosomiasis.

[Icteric Fort Bragg fever: a case report with nosological discussion]. / Fièvre de Fort Bragg ictérique: discussion nosologique à propos d'un cas.

INTRODUCTION: Ictero-hemorrhagic leptospirosis is an endemic disease in France. Weil's disease, a form of leptospirosis, is well known. Fort Bragg fever is characterized by a constant pretibial papular lesion. First described in the USA, this non icteric form of leptospirosis is usually benign. We report the first French case of a mixed form of leptospirosis. EXEGESIS: A 52-year-old man living in South East France suffered from fever and myalgias associated with a pretibial papular lesion. A severe icterus appeared and permitted a diagnosis of leptospirosis. CONCLUSION: Our case recalls the clinical presentation of Fort Bragg fever, which is recognized through its inflammatory pretibial lesion associated or not with icterus.

[Retrospective study of 55 patients with circulating blood T gama/delta lymphocytosis]. / Etude rétrospective de 55 patients présentant une lymphocytose T gamma/delta dans le sang circulant.

PURPOSE: Gamma/delta T lymphocytes constitute a singular population due to their particular antigenic recognition and their localization inside the epithelium. Their functions are complementary to those of the alpha/beta T-cells and they are involved in the defense and regulation of the immune system. Their role in human diseases is not very well understood and the aim of our study was to analyze a population of patients with a peripheral gamma/delta T-cell lymphocytosis. METHODS: The study included 55 patients, recruited from 1997 to 2000, with a peripheral gamma/delta T lymphocytosis (defined by a proportion of gamma/delta T-cells of over 10% of total peripheral T lymphocytes). Analysis of the lymphocyte population was obtained by cytometry after peripheral blood sampling. RESULTS: Three main groups of diseases were observed: infectious diseases (viral infections and tuberculosis), inflammatory diseases (sarcoidosis and autoimmune diseases) and blood diseases (monoclonal gammopathies and hemopathies). Persistence of gamma/delta T lymphocytosis was dependent on the underlying disease (transitional when associated with an infectious disease and lasting when associated with sarcoidosis). The rest of the immunophenotyping analysis was usually normal. CONCLUSION: Our results confirm the data published in the literature concerning the role of the gamma/delta T lymphocytes in infectious, inflammatory and autoimmune diseases and neoplasias. These data are in agreement with the cytotoxic and regular functions of these lymphocytes.

[Psychological and behavioral disorders with good outcome in neurosarcoidosis]. / Troubles psychocomportementaux d'évolution favorable au cours d'une neurosarcoïdose.

INTRODUCTION: Neurological involvement is observed in 5% of cases of sarcoidosis and includes impairment of the central nervous system, the meninges, and the cranial and peripheral nerves. Besides neurological defects, cognitive impairment may be encountered ranging from isolated memory defect to dementia. EXEGESIS: We report a case of neurosarcoidosis occurring in a 40-year-old woman, a native of Reunion Island, with initial meningeal and hypophyseal involvement. Three years later, while treated with low dose prednisolone and methotrexate, she presented a paranoid state associated with cognitive impairment of frontal type and severe behavioral disturbances. After 2 years of high dose steroid treatment associated with hydroxychloroquine, her behavioral status improved, allowing social and familial reinsertion. CONCLUSION: In our observation, sarcoidosis was revealed through a central neurological impairment, with chronic meningitis, facial nerve palsy, and, finally, through psychiatric symptoms and severe behavioral disturbances. A slow favorable outcome was obtained using high dose methylprednisolone and hydroxychloroquine with total regression of behavioral disturbances but with persisting cognitive alteration.

[Stevens-Johnson syndrome followed by Gougerot-Sjögren syndrome]. / Syndrome de Stevens-Johnson suivi d'un syndrome de Gougerot-Sjögren.

BACKGROUND: Sicca syndrome after Stevens-Johnson syndrome is classically described. However, to our knowledge, authentic Sjögren's syndrome following epidermal necrolysis has not been described previously. CASE REPORT: A 36-year-old woman with Steven-Johnson syndrome developed transient hepatitis and a persistent sicca syndrome. Fourteen years later an authentic Sjögren's syndrome was identified with presence of antinuclear and anti-SSA antibodies and lymphocytes infiltration of the accessory salivary glands, i.e. grade IV disease in the Chisholm classification. DISCUSSION: The initial mucosal destruction observed in our patients may have laid the ground for Sjögren's syndrome via abnormal antigen presentation in a predisposed dysimmune context.

[Gamstorp's disease in a Marseilles family]. / Maladie de Gamstorp. A propos d'une famille marseillaise.

BACKGROUND: Primary periodic palsy is a group of muscular diseases transmitted by autosomal dominant inheritance. The characteristic features are flaccid muscular deficiency, abolition of reflexes, and dyskalemia. CASE REPORT: A 36-year-old woman presented a 5-year history of acute episodes of myalgia, muscle contracture, and muscle paralysis involving first the hand, then all four limbs and the face, sparing the respiratory muscles. The symptoms totally regressed spontaneously within one hour or in a shorter time if the patient ingested sugar. Demonstration of hyperkalemia during an acute episode led to the diagnosis of transfer hyperkalemia typical of Gamstorp's disease. Several members of the family presented identical symptoms. DISCUSSION: Despite progress in our understanding of this disease, diagnosis is often made late. The diagnostic strategy is however quite simple: serum potassium during an acute episode and provocation test with fasting and rest.